UAP1 - UDP-N-acetylglucosamine pyrophosphorylase 1 Gene

Homo sapiens

Also known as AGX; AGX1; AGX2; SPAG2

Gene ID: 6675 | Gene type: protein coding

About UAP1

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:162,561,531-162,601,240 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues and 2 paralogues. Broad expression in testis (RPKM 52.4), liver (RPKM 41.2) and 25 other tissues.

Summary

Enables identical protein binding activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

UAP1 Products(12)

mRNA	Protein	Name
NM_001324113.2	NP_001311042.1	UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001324114.2	NP_001311043.1	UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001324115.3	NP_001311044.1	UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001324116.5	NP_001311045.1	UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001324117.3	NP_001311046.1	UDP-N-acetylhexosamine pyrophosphorylase isoform c
NM_001388401.1	NP_001375330.1	UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001388402.1	NP_001375331.1	UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001399790.1	NP_001386719.1	UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001399791.1	NP_001386720.1	UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001399792.1	NP_001386721.1	UDP-N-acetylhexosamine pyrophosphorylase isoform d
NM_001399793.1	NP_001386722.1	UDP-N-acetylhexosamine pyrophosphorylase isoform e
NM_003115.6	NP_003106.3	UDP-N-acetylhexosamine pyrophosphorylase isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein serine pyrophosphorylase activity	IDA IDA: Inferred from direct assay	36603579	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in antiviral innate immune response	IDA IDA: Inferred from direct assay	36603579	GOA
involved in positive regulation of type I interferon production	IDA IDA: Inferred from direct assay	36603579	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in cytosol	IDA IDA: Inferred from direct assay	8025165	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UAP1 Protein Structure

UDPGP

0
100
200
300
400
522 a.a.

Protein Preferred Names

Protein Names

UDP-N-acetylhexosamine pyrophosphorylase

UDP-N-acetylglucosamine diphosphorylase 1

Recombinant UAP1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71817	UAP1 Protein, Human (P.pastoris, His)	Q16222 (1M-522I)	≥95%

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 109

DFNB109	Autosomal Recessive Nonsyndromic Deafness 109
Autosomal Recessive Deafness 109	Deafness, Autosomal Recessive, 109

Galactosemia I

Galactosemia	Galt Deficiency
Classic Galactosemia	Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose-1-Phosphate Uridyltransferase Deficiency	GALAC1
Galactosemia, Classic	Galactosemia Type 1
Galactosemias	Classical Galactosemia
Galactosaemia	Galactose Intolerance
Epimerase Deficiency Galactosemia	Galactokinase Deficiency Disease
Galactose Epimerase Deficiency	Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Gale Deficiency	Galk Deficiency
Udp-Galactose-4-Epimerase Deficiency Disease	Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia 1	Galactosemia, Duarte Variant
Deficiency Of Galactokinase	Udpglucose 4-Epimerase Deficiency Disease
Classical Galactosaemia	Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
Classic Galactosaemia	Deficiency Of Hexose-1-Phosphate Uridylyltransferase
Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase	Deficiency Of Galactose-1-Phosphate Uridylyltransferase
Galactose-1-Phosphate Uridyl Transferase Deficiency	Transferase Deficiency Galactosemia
Deficiency Of Uridyl Transferase	Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Galactosemia Iii

Galactose Epimerase Deficiency	Gale Deficiency
Udp-Galactose-4-Epimerase Deficiency	Epimerase Deficiency Galactosemia
Galactosemia Type 3	Gale-D
Uridine Diphosphate Galactose-4-Epimerase Deficiency	GALAC3
Galactosemia 3	Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency
Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency	Galactosemia Type Iii
Udp-Galactose-4'-Epimerase Deficiency	Generalized Galactose Epimerase Deficiency
Generalized Gale Deficiency	Generalized Gale-D
Generalized Udp-Galactose-4-Epimerase Deficiency	Generalized Epimerase Deficiency Galactosemia
Erythrocyte Galactose Epimerase Deficiency	Erythrocyte Gale Deficiency
Erythrocyte Gale-D	Erythrocyte Udp-Galactose-4-Epimerase Deficiency
Erythrocyte Epimerase Deficiency Galactosemia	Galactosemias
Classical Galactosemia	Udpglucose 4-Epimerase Deficiency Disease

Dystonia 16

DYT16	Dyt-Prkra
Dystonia-16	Young-Onset Dystonia-
Early-Onset Dystonia Parkinsonism	Dystonia, Type 16

Armfield Syndrome

X-Linked Intellectual Disability, Armfield Type	Armfield X-Linked Mental Retardation Syndrome
Mental Retardation Syndrome, X-Linked, Armfield Type	Mrxsa
Syndromic X-Linked Mental Retardation Armfield Type

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15317	UAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS15318	UAP1L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	UAP1	VGNC	VGNC:36559
Rattus norvegicus	UAP1	RGD	RGD:1561967
Canis familiaris	UAP1	VGNC	VGNC:48035
Mus musculus	UAP1	MGD	MGI:1334459
Felis catus	UAP1	VGNC	VGNC:66744
Macaca mulatta	UAP1	VGNC	VGNC:78685
Others	UAP1	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.